H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

Recurrent de novo missense variants in H4 histone genes have recently been associated with a novel neurodevelopmental syndrome that is characterized by intellectual disability and developmental delay as well as more variable findings that include short stature, microcephaly, and facial dysmorphisms. A 4-year-old male with autism, developmental delay, microcephaly, and a happy demeanor underwent evaluation through the Undiagnosed Disease Network. He was clinically suspected to have Angelman syndrome; however, molecular testing was negative.

Engineering the Exchange Spin Waves in Graded Thin Ferromagnetic Films.

The results of experimental and theoretical studies of standing spin waves in a series of epitaxial films of the ferromagnetic Pd1−xFex alloy (0.02 < x < 0.11) with different distributions of the magnetic properties across the thickness are presented.

Ultrafast signatures of magnetic inhomogeneity in Pd Fe ( ≤ 0.08) epitaxial thin films.

A series of Pd Fe alloy epitaxial films ( = 0, 0.038, 0.062, and 0.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

The pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was suggested as a candidate gene for autism spectrum disorder due to the enrichment of sequence variants in this gene in individuals with neurodevelopmental disorders.

Controllable two- and three-state magnetization switching in single-layer epitaxial Pd Fe films and an epitaxial PdFe/Ag/PdFe heterostructure.

We have investigated the low-temperature magnetoresistive properties of a thin epitaxial PdFe film at different directions of the current and the applied magnetic field. The obtained experimental results are well described within an assumption of a single-domain magnetic state of the film. In a wide range of the appled field directions, the magnetization reversal proceeds in two steps via the intermediate easy axis.

Synthesis, Characterization, and Magnetoresistive Properties of the Epitaxial PdFe/VN/PdFe Superconducting Spin-Valve Heterostructure.

A thin-film superconductor(S)/ferromagnet(F) F1/S/F2-type PdFe(20 nm)/VN(30 nm)/PdFe(12 nm) heteroepitaxial structure was synthesized on (001)-oriented single-crystal MgO substrate utilizing a combination of the reactive magnetron sputtering and the molecular-beam epitaxy techniques in ultrahigh vacuum conditions. The reference VN film, PdFe/VN, and VN/PdFe bilayers were grown in one run with the target sample. In-situ low-energy electron diffraction and ex-situ X-ray diffraction investigations approved that all the PdFe and VN layers in the series grew epitaxial in a cube-on-cube mode.

Epitaxial growth and superconducting properties of thin-film PdFe/VN and VN/PdFe bilayers on MgO(001) substrates.

Single-layer vanadium nitride (VN) and bilayer PdFe/VN and VN/PdFe thin-film heterostructures for possible spintronics applications were synthesized on (001)-oriented single-crystalline magnesium oxide (MgO) substrates utilizing a four-chamber ultrahigh vacuum deposition and analysis system. The VN layers were reactively magnetron sputtered from a metallic vanadium target in Ar/N plasma, while the Pd Fe layers were deposited by co-evaporation of metallic Pd and Fe pellets from calibrated effusion cells in a molecular beam epitaxy chamber. The VN stoichiometry and Pd Fe composition were controlled by X-ray photoelectron spectroscopy.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder (GAND).

Methods: Fifty GAND subjects were evaluated to determine consistent genotypic/phenotypic features. Immunoprecipitation assays utilizing in vitro transcription-translation products were used to evaluate GATAD2B missense variants' ability to interact with binding partners within the nucleosome remodeling and deacetylase (NuRD) complex.

Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia.

Background: The diagnosis of primary ciliary dyskinesia (PCD) is difficult and requires a combination of clinical features, nasal nitric oxide testing, cilia ultrastructural analysis by electron microscopy (EM), and genetics. A recently described cytoplasmic ultrastructural change termed "ciliary inclusions" was reported to be diagnostic of PCD; however, no supporting evidence of PCD was provided. In this study, we sought to confirm, or refute, the diagnosis of PCD in subjects with "ciliary inclusions" on EM.

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.

Background: Genomic microarrays have been used as the first-tier cytogenetic diagnostic test for patients with developmental delay/intellectual disability, autism spectrum disorders and/or multiple congenital anomalies. The use of SNP arrays has revealed regions of homozygosity in the genome which can lead to identification of uniparental disomy and parental consanguinity in addition to copy number variations. Consanguinity is associated with an increased risk of birth defects and autosomal recessive disorders.

Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.

Low copy repeat (LCR) sequences in 17p11.2 predispose this region to genomic deletions and duplications. Duplication of 17p11.

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.

Introduction: Medium chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent of the fatty acid oxidation disorders (FAOD), a group caused by defects in the mitochondrial B-oxidation of fatty acids. Fatty acid oxidation is critical in supplying energy during periods when glucose is limited or when energy needs are increased beyond the availability of glucose. In MCADD, this energy shortage can result in acute metabolic episodes or sudden death.